Definition
Pfeiffer syndrome is a congenital syndrome characterized by craniosynostosis and broad thumbs and big toes.
Symptoms
- Craniosynostosis
- Broad thumbs
- Facial hypoplasia
- Hydrocephalus
Reasons
FGFR1 or FGFR2 gene mutations.
Diagnosis
Clinical findings, genetic testing.
Treatment
Surgical reconstruction.
Which Polyclinic Should You Apply To?
Genetics Polyclinic
What to Do in an Emergency?
In case of increased cranial pressure, emergency services should be consulted.
This page is for general information purposes only.